p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

Park, Hye Won; Kwak, Byung Ok; Kim, Gu-Hwan; Yoo, Han‐Wook; Chung, Sochung

doi:10.6065/apem.2013.18.1.40

Cited by 3 publications

(3 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Only three previous cases of CAH twins had confirmation of diagnosis with molecular analysis [15,16,18]. The sequence variation observed in our patient was different from the previously reported cases and is more commonly found in the patients from the Asian continent [20].…”

Section: Discussioncontrasting

confidence: 71%

See 1 more Smart Citation

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases

Muthuvel¹,

Gautam²,

Pal³

et al. 2020

pedm

View full text Add to dashboard Cite

Congenital adrenal hyperplasia (CAH) occurring in twins is extremely rare. Most of these cases are of classic salt-wasting CAH due to 21-hydroxylase enzyme deficiency. Only two cases of the simple virilising form of CAH have been reported previously, with variable clinical presentations. In this report, we describe a pair of monozygotic twins with classic simple virilising form of CAH, who had a simultaneous onset and similar severity of clinical manifestations. Genetic analysis of the CYP21A2 gene in twin 1 showed the presence of two heterozygous pathogenic sequence variants, c.518T>A and c.955C>T in the CYP21A2 gene, consistent with a diagnosis of CAH due to 21-hydroxylase deficiency. We also present a brief review of previous cases of twins with CAH.

show abstract

Section: Discussioncontrasting

confidence: 71%

“…Our literature search revealed only 15 cases of twins with CAH, highlighting the rarity of this condition. Table I shows the cases of twins with CAH that have been reported so far [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. The anticipated incidence is probably less than 1 in 23 million births [5].…”

Section: Discussionmentioning

confidence: 99%

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases

Muthuvel¹,

Gautam²,

Pal³

et al. 2020

pedm

View full text Add to dashboard Cite

show abstract

“…Data regarding the growth patterns of CLAH patients are limited (Table 4 ). The heights of CLAH patients from 1.2 years to 4 years of age were reported to be between the 10th and 50th percentiles of that among the normal population [ 4 , 23 ]. The final heights in patients with CLAH were reported to be shorter or similar to the calculated midparent height [ 9 , 24 , 25 ].…”

Section: Discussionmentioning

confidence: 99%

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

Zhao

Liu

et al. 2018

BMC Endocr Disord

View full text Add to dashboard Cite

BackgroundCongenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation.Case presentationWe report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The patient had typical early-onset adrenal crisis at 2 months of age. She had normal-appearing female genitalia and a karyotype of 46, XY. The serum cortisol and adrenal steroids levels were always nearly undetectable, but the adrenocorticotropic hormone levels were extremely high. Genetic analysis revealed compound heterozygous mutations at c. 229C > T (p.Q77X) in exon 3 and c. 722C > T (p.Q258X) in exon 7 of the StAR gene. The former mutation was previously detected in only two other Chinese CLAH patients. Both mutations cause truncation of the StAR protein. The case reported here appears to be a classic example of CLAH with very small adrenal glands and is the second reported CLAH case with small adrenal glands thus far. In a 15-year follow-up, the patient’s height was approximately average for females before age 4 and fell to − 1 SDS at 10 years of age. Her bone age was similar to her chronological age from age 4 to age 15 years.ConclusionsIn conclusion, this is a classic case of CLAH with exceptionally small adrenal glands. Q77X mutation seems to be more common in Chinese CLAH patients. Additionally, this is the first report of the growth pattern associated with CLAH after a 15-year follow-up.

show abstract

Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

Kang

Kim

et al. 2017

Mol Med

Self Cite

View full text Add to dashboard Cite

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, caused by defects in the steroidogenic acute regulatory protein (STAR). The STAR p.Q258* mutation is the most common mutation in China, Japan and Korea, suggesting a founder effect. This study aimed to investigate the phenotypic and mutation spectrum of STAR defects and identify the founder effect of the p.Q258* mutation in Korean patients with CLAH. For 45 patients from 42 independent pedigrees, haplotype analysis was performed in 10 unrelated trio families, including patients with the p.Q258* mutation whose DNA samples were available, using 1,972 single nucleotide polymorphism (SNP) and six short tandem repeat markers. An Illumina Infinium® Human Omni2.5-8 v1.3 performed the SNP genotyping. Among 84 alleles from 42 unrelated families, mutation p.Q258* was found in 74 alleles (88.1%) from 41 families. A shared haplotype was identified in 17 of 20 alleles from 10 patients (size, 198 kb). The age of the founder mutation was estimated as 4,875 years (95% credible set: 3,575-7,925 years), assuming an intergenerational time interval of 25 years. The STAR p.Q258* mutation is the most common in Korean patients with CLAH, suggesting a founder effect. The age of the mutation corresponds with the time when the Korean people settled in the Korean peninsula. The high prevalence of p.Q258* in Japan and China also suggests a founder effect in Asian countries.

show abstract

p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

Cited by 3 publications

References 9 publications

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

Contact Info

Product

Resources

About