Alternative titles; symbols
HGNC Approved Gene Symbol: STAR
SNOMEDCT: 44231009;
Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:38,142,700-38,150,952 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 8p11.23 | Lipoid adrenal hyperplasia | 201710 | Autosomal recessive | 3 |
STAR appears to mediate the rapid increase in pregnenolone synthesis stimulated by tropic hormones (Sugawara et al., 1995).
Clark et al. (1994) had previously identified a 37-kD precursor protein and several forms of a 30-kD mature protein that were synthesized in response to luteinizing hormone (LH; see 152780) and that were localized to mitochondria in the MA10 mouse Leydig tumor cell line. They cloned a full-length cDNA encoding the precursor protein, which they called Star, from mouse MA10 cells. The deduced protein contains 284 amino acids, including a mitochondrial targeting sequence, and has a calculated molecular mass of 31.6 kD. In vitro transcription/translation confirmed that Star encodes the 37-kD precursor protein and all forms of the mature 30-kD protein previously observed in MA10 cells.
Sugawara et al. (1995) isolated cDNAs encoding STAR from a human adrenal cortex library. A major STAR transcript of 1.6 kb and less abundant transcripts of 4.4 and 7.5 kb were detected in ovary and testis. Kidney had a lower amount of the 1.6-kb message. STAR mRNA was not detected in other tissues, including placenta. Sugawara et al. (1995) concluded that STAR expression is restricted to tissues that carry out mitochondrial sterol oxidations subject to acute regulation by cAMP and that STAR mRNA levels are regulated by cAMP.
Using somatic cell hybrid mapping panels, Sugawara et al. (1995) mapped the STAR gene to chromosome 8p. Fluorescence in situ hybridization placed the STAR gene in the 8p11.2 region. A pseudogene was mapped to chromosome 13.
Clark et al. (1994) found that expression of mouse Star in MA10 cells in the absence of hormone stimulation was sufficient to induce steroid production. They concluded that Star is required for hormone-induced steroidogenesis.
Sugawara et al. (1995) found that coexpression of human STAR in COS-1 cells with cytochrome P450scc (118485) and adrenodoxin (103260) increased pregnenolone synthesis more than 4-fold.
In 3 unrelated patients with lipoid congenital adrenal hyperplasia, Lin et al. (1995) demonstrated homozygous mutations in the STAR gene (600617.0002; 600617.0014).
Tee et al. (1995) described an unusual intronic mutation (600617.0001) that resulted in an mRNA splicing error in a patient with lipoid CAH. At the time of report, all patients studied had mutations in STAR, suggesting that such mutations are the sole cause of lipoid CAH.
From a study of 15 patients with congenital lipoid adrenal hyperplasia from 10 countries, Bose et al. (1996) concluded that the primary defect in this disorder resides in STAR. However, the congenital lipoid adrenal hyperplasia phenotype is the result of 2 separate events. The genetic loss of steroidogenesis resulting from mutation in the STAR gene is the primary defect; there is a subsequent loss of steroidogenesis that is independent of STAR due to cellular damage from accumulated cholesterol esters in the adrenal cortex, leading to salt wasting, hyponatremia, hypovolemia, hyperkalemia, acidosis, and death in infancy, although patients can survive to adulthood with appropriate mineralocorticoid- and glucocorticoid-replacement therapy. Bose et al. (1996) identified 15 different mutations in the STAR gene among 14 patients. The gln258-to-ter mutation (600617.0002) was found in 80% of affected alleles from Japanese and Korean patients, while the mutation arg182leu (600617.0003) was found in 78% of affected alleles from Palestinian patients.
Nakae et al. (1997) did a genomic mutation screen of the STAR gene in 19 Japanese patients with lipoid CAH from 16 different families. Ten patients had a 46,XX karyotype and 9 had a 46,XY karyotype. Six of the 46,XX patients experienced spontaneous pubertal changes, including breast development and irregular menstruation, whereas none of the 46,XY subjects displayed pubertal changes. Eight different mutations were identified. Sixteen patients were either homozygotes or compound heterozygotes for the gln258-to-ter (Q258X) mutation (600617.0002). The 7 other mutations identified were 189delG, 246insG, 564del13bp, 838delA, gln212-to-ter (Q212X), ala218-to-val (A218V; 600617.0008), and met225-to-thr (M225T). COS-1 cells transfected with expression vectors encoding cDNAs for the mutant STAR proteins that affected the C terminus (838delA, A218V, and Q258X) exhibited no steroidogenesis-enhancing activity. However, the M225T mutant retained some steroidogenic activity. The patient with the M225T mutation had late onset of the disorder and some capacity to secrete testosterone in response to chorionic gonadotropin. Nakae et al. (1997) suggested that the Q258X mutation can be used as a genetic marker for the screening of Japanese for lipoid CAH since it occurred in 16 of 19 patients; that the C terminus of STAR plays an important role in the protein's activity; and that there are differences in the extent of functional impairment of the testis and ovaries in lipoid CAH, with more severe effects in the male.
Lipoid CAH is common among the Japanese, Korean, and Palestinian Arab populations, but is rare elsewhere. Bose et al. (2000) described 6 patients with lipoid CAH: 4 Japanese, 1 Palestinian, and 1 Guatemalan Native American. All had classical clinical presentations of normal female external genitalia in both genetic sexes, with severe glucocorticoid and mineralocorticoid deficiency presenting in the first month of life. Quite atypically, one patient had small adrenal glands shown by computed tomographic scanning. The STAR genes were characterized in all 6 patients. Three of the Japanese patients were compound heterozygotes for the common Japanese mutation gln258 to ter (600617.0002) in association with 3 different novel frameshift mutations; the fourth Japanese patient was homozygous for the mutation arg182 to leu (600617.0003), which is common among Palestinian patients but had not been described previously in a Japanese patient. The Palestinian and Native American patients were each homozygous for novel frameshift mutations. Thus, the authors found 5 new frameshift mutations, but no new missense mutations. The authors concluded that this was consistent with the view that only a small number of residues in the STAR protein are crucial for biologic activity. They also inferred that the tomographic finding of small adrenals in a patient with genetically proven lipoid CAH due to a STAR mutation suggested a substantially broader spectrum of clinical findings in this disease than had been appreciated previously.
Calvo et al. (2001) used heteroduplex analysis to screen the genes encoding STAR, SF1 (184757), DAX1 (300473), and CYP11A (118485) for mutations in genomic DNA from 19 women presenting with hirsutism and increased serum androgen levels. They identified a basepair change in the STAR gene. Three of 48 patients and 3 of 43 controls presented this variant. No mutations were found in coding regions of the STAR gene. The authors concluded that mutations in STAR, SF1, CYP11A, and DAX1 are seldom found in hirsute patients and do not explain the steroidogenic abnormalities found in these women.
Gonzalez et al. (2004) reported a 2-month-old female patient, karyotype 46,XY, who presented with growth failure, convulsions, dehydration, hypoglycemia, hyponatremia, hypotension, and severe hyperpigmentation suggestive of adrenal insufficiency. Serum cortisol, 17-hydroxyprogesterone, dehydroepiandrosterone sulfate, testosterone, 17-hydroxypregnenolone, and aldosterone levels were undetectable in the presence of high ACTH and plasma renin activity levels. Immunohistochemical analysis of testis tissues revealed the absence of STAR protein. Molecular analysis of the STAR gene demonstrated a homozygous G-to-T mutation within the splice donor site of exon 1 (600617.0009).
Baker et al. (2006) studied the gene encoding STAR in 3 children from 2 families who presented with primary adrenal insufficiency at 2 to 4 years of age; the males had normal genital development. DNA sequencing identified homozygous STAR mutations val187 to met (600617.0011) and arg188 to cys (600617.0012) in these 2 families. Functional studies of STAR activity in cells and in vitro and cholesterol-binding assays showed these mutants retained approximately 20% of wildtype activity. The authors referred to these patients as cases of nonclassic lipoid congenital adrenal hyperplasia, and stated that they represented a new cause of nonautoimmune Addison disease (primary adrenal failure).
Caron et al. (1997) used targeted gene disruption to produce STAR knockout mice. Initially, the knockout mice were indistinguishable from wildtype littermates, except that males and females had female external genitalia. After birth, they failed to grow normally and died from adrenocortical insufficiency. Hormone assays confirmed severe defects in adrenal steroids--with loss of negative feedback regulation at hypothalamic-pituitary levels--whereas hormones constituting the gonadal axis did not differ significantly from levels in wildtype littermates. Histologically, the adrenal cortex of STAR knockout mice contained florid lipid deposits, with lesser deposits in the steroidogenic compartment of the testis and none in the ovary. The sex-specific differences in gonadal involvement supported a 2-stage model of the pathogenesis of STAR deficiency, with trophic hormone stimulation inducing progressive accumulation of lipids within the steroidogenic cells and ultimately causing their death.
Tee et al. (1995) described a splice acceptor site mutation in a 46,XY patient of Vietnamese ancestry with lipoid CAH (201710) of somewhat milder form than the usual. Diagnosis was at 10 weeks of age. Testicular RNA for STAR demonstrated a 185-bp deletion corresponding to all of exon 5. The mRNA did not encode active protein in transfected cells. Genomic DNA revealed only a T-to-A transversion in intron 4, 11 bp from the splice acceptor site of exon 5. This transversion destroyed an NcoI restriction site; digestion of PCR-amplified genomic DNA from the patient and both parents confirmed that the patient was homozygous and the parents were heterozygous. RNase protection assays showed that expression of a vector with normal intron 4 yielded correctly spliced STAR mRNA in transfected COS-1 cells, while most, but not all, STAR mRNA from a vector with the T-to-A transversion in intron 4 was abnormally spliced. The same was true for the patient's testicular RNA. The authors noted that the low level of normal STAR mRNA produced in this patient may account for the later clinical presentation and the low but not absent levels of steroid hormones detected in the patient. They also noted that splicing errors as remote as this from the splice junction site are easily missed but, despite that fact, are probably unusual. Another notable example is the A-to-G mutation 13 bp from the junction between intron 2 and exon 3 of the human gene for steroid 21-hydroxylase, which is the most common single cause of virilizing congenital adrenal hyperplasia (201910.0006).
In 2 unrelated patients with lipoid congenital adrenal hyperplasia (201710), Lin et al. (1995) identified a homozygous C-to-T transition in the STAR gene, resulting in a gln258-to-ter (Q258X) substitution. One patient was Korean and the other was Japanese.
Bose et al. (1996) found that 8 of 10 affected STAR alleles in patients with lipoid congenital adrenal hyperplasia from Japan and Korea (where congenital lipoid adrenal hyperplasia is not as rare as it is in U.S.) had the gln258-to-ter mutation, suggesting a founder effect. The responsible C-to-T mutation destroyed the recognition site for 3 restriction enzymes. Bose et al. (1996) estimated that the carrier rate for this mutation in Japan is about 1 in 200.
Bose et al. (2000) described 6 patients with lipoid CAH: 4 Japanese, 1 Palestinian, and 1 Guatemalan Native American. All had classical clinical presentations of normal female external genitalia in both genetic sexes, with severe glucocorticoid and mineralocorticoid deficiency presenting in the first month of life. Three of the Japanese patients were compound heterozygotes for the common Japanese mutation Q258X in association with 3 different novel frameshift mutations.
Six of 15 patients with lipoid congenital adrenal hyperplasia (201710) studied by Bose et al. (1996) were of Palestinian ancestry. Two were sibs and another patient was from a consanguineous marriage. Thus, 6 patients represented 9 unique alleles, 7 of which had the arg182-to-leu mutation. These apparently unrelated patients were from Jordan, Israel, Kuwait, and Denmark. Identification of intronic polymorphisms and other mutations within the STAR gene showed that the arg182-to-leu mutation was found in various sequence contexts, confirming that the patients were unrelated.
Bose et al. (2000) described 6 patients with lipoid CAH: 4 Japanese, 1 Palestinian, and 1 Guatemalan Native American. All had classical clinical presentations of normal female external genitalia in both genetic sexes, with severe glucocorticoid and mineralocorticoid deficiency presenting in the first month of life. One Japanese patient was homozygous for the R182L mutation, which is common among Palestinian patients but had not been described previously in a Japanese patient.
Bose et al. (1997) reported a 15.5-year-old 46,XX female with a classic history of lipoid congenital adrenal hyperplasia (CAH; 201710) who underwent spontaneous feminization and developed cyclical vaginal bleeding at age 13. Genetic analysis of the patient and her parents showed that she was homozygous for a novel STAR gene (261delT) frameshift mutation. Finding an inactive STAR gene in this patient confirmed their 2-hit model of the pathogenesis of lipoid CAH, in which loss of STAR activity initially preserves STAR-independent steroidogenesis, which is lost only after cells undergo chronic tropic stimulation and subsequent damage from accumulation of cholesterol esters.
Okuyama et al. (1997) sequenced the cytochrome P450scc (118485) and STAR genes in a patient from a Korean family with a mild form of lipoid CAH (201710). The only mutation found in the 2 genes was a thymine (T) insertion into intron 2 of the STAR gene, 3 bp from the splice donor site of exon 2. Northern and reverse transcriptase-PCR analyses showed that mRNA transcribed from the mutant STAR gene construct retained intron 2, while that from the normal STAR gene construct spliced exons 2 and 3 correctly. The authors concluded that the T insertion into the STAR gene accounts for the lipoid CAH phenotype in this patient.
Korsch et al. (1999) described a 15-year-old 46,XY phenotypic female with lack of pubertal development (lipoid CAH; 201710). ACTH and gonadotropin concentrations were elevated. Aldosterone, cortisol and its precursors, and sex steroids before and after stimulation were below the lower limit of detection. Homozygosity for a nonsense mutation (TGG to TAG) encoding a trp250-to-ter substitution was identified in exon 7 of the STAR gene. Histologic examination after gonadectomy showed seminiferous tubules containing immature Sertoli cells and a few single germ cells with positive placental-like alkaline phosphatase immunoreactivity, indicating carcinoma in situ.
Katsumata et al. (1999) reported a Japanese patient with lipoid congenital adrenal hyperplasia (201710) who was a compound heterozygote for mutations in the STAR gene. In one allele, they identified a G-to-C transversion in codon 217, involving the last base of exon 5, which resulted in an arg217-to-thr substitution. This mutation also was predicted to alter the splice donor site sequence. The other allele, a C-to-T transition in codon 218, was predicted to encode an ala218-to-val substitution (600617.0008), which abolishes STAR activity. In vitro expression analysis of a construct harboring the arg217-to-thr mutation disrupted normal splicing, resulting in the complete skipping of exon 5, which alters the translation reading frame of exon 6, introduces a stop codon at amino acid position 174, and thus impairs activity. A functional expression study of the arg217-to-thr mutation revealed that it has no steroidogenesis-enhancing activity if its transcripts are ever spliced normally and translated into protein.
See 600617.0007 and Katsumata et al. (1999).
In a 2-month-old Chilean female, karyotype 46,XY, with lipoid congenital adrenal hyperplasia (201710), Gonzalez et al. (2004) found a homozygous G-to-T mutation within the splice donor site of exon 1 of the STAR gene (IVS1+1G-T). RT-PCR analyses of the mutant gene showed an abnormal mRNA transcript of 2430 bp (normal size 433 bp). Sequence analysis of the mutant mRNA demonstrated the retention of intron 1. The authors concluded that this mutation gives rise to a truncated STAR protein, which lacks an important N-terminal region and the entire lipid transfer domain.
Among 8 patients with congenital lipoid adrenal hyperplasia (201710) from 6 apparently unrelated Saudi Arabian families, Chen et al. (2005) reported that 7 were homozygous for an arg182-to-his (R182H) mutation in the steroidogenic acute regulatory protein (STAR). Onset of symptoms ranged from 1 month to 14 months. The R182H mutation was recreated in a human STAR cDNA expression vector and found to be wholly inactive in a standard assay of COS-1 cells cotransfected with the cholesterol side-chain cleavage enzyme system. Thus, the loss of all assayable activity in vitro correlated poorly with the later onset of clinical symptoms in these patients. Chen et al. (2005) concluded that lipoid CAH may present much later in life than previously thought.
Achermann et al. (2001) described this mutation in a patient from Qatar with onset of clinical symptoms and laboratory evidence of salt loss noted at 3 weeks of age.
In a Pakistani 46,XX phenotypic female with lipoid congenital adrenal hyperplasia (201710), Baker et al. (2006) detected homozygosity for a G-to-A transition in the STAR gene that resulted in a val-to-met substitution at codon 187 of the steroidogenic acute regulatory protein (V187M). The patient presented with fever and vomiting at 2 years of age and was hypoglycemic during a viral illness at 4 years of age. Progressive hyperpigmentation prompted a referral at 4.5 years, at which time basal cortisol was undetectable.
In 2 Pakistani brothers with lipoid congenital adrenal hyperplasia (201710), Baker et al. (2006) found homozygosity for a C-to-T transition in the STAR gene that resulted in a substitution of cys for arg at codon 188 of the steroidogenic acute regulatory protein (R188C). The karyotype of both brothers was 46,XY, and genital development was normal. The older brother presented with hyperpigmentation at 1.5 years; at 2.2 years low basal cortisol and other signs of compensated primary adrenal failure were detected.
Abdulhadi-Atwan et al. (2007) studied 8 Palestinians from 4 unrelated families with congenital lipoid adrenal hyperplasia (210710). All affected individuals (3 XY, 5 XX) presented neonatally with undetectable adrenocortical hormones and are responding to replacement therapy. Only 2 sisters, originally reported by Bhangoo et al. (2005), had neurodevelopmental deficits. Histopathologic findings of excised XY gonads included accumulation of fat in Leydig cells. As early as 1 year of age, positive placental alkaline phosphatase and octamer binding transcription factor staining indicated neoplastic potential. Sequence analysis of STAR revealed homozygosity for a 2-bp deletion (201_202delCT) in all 8 cases, causing premature termination at amino acid 68 of the STAR protein. All of the parents were carriers of the mutation, which was confirmed to be a founder mutation. The mutation was not found in 100 normal Jerusalem Palestinians. Abdulhadi-Atwan et al. (2007) noted that Bhangoo et al. (2005) had reported this mutation in the 2 sisters as 327_328delCT based on a different numbering system.
In a Caucasian patient with lipoid congenital adrenal hyperplasia (201710), Lin et al. (1995) identified a homozygous C-to-T transition in the STAR gene, resulting in an arg193-to-ter (R193X) substitution. Both parents were carriers of the mutation.
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Clark, B. J., Wells, J., King, S. R., Stocco, D. M. The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells: characterization of the steroidogenic acute regulatory protein (StAR). J. Biol. Chem. 269: 28314-28322, 1994. [PubMed: 7961770]
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Tee, M.-K., Lin, D., Sugawara, T., Holt, J. A., Guiguen, Y., Buckingham, B., Strauss, J. F., III, Miller, W. L. T-to-A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum. Molec. Genet. 4: 2299-2305, 1995. [PubMed: 8634702] [Full Text: https://doi.org/10.1093/hmg/4.12.2299]