797 A mosaic contiguous deletion associated with CYLD cutaneous syndrome
نویسندگان
چکیده
منابع مشابه
A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome
Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we pres...
متن کاملTwo cases of TSC2/PKD1 contiguous gene deletion syndrome
[2]. Sporadic cases constitute two thirds of tuberous sclerosis cases. TSC2 mutations are about four times more frequent in sporadic cases compared to TSC1 mutations and cause a more severe phenotype [3]. Autosomal dominant polycystic kidney disease (ADPKD, MIM#173900) is a common renal disorder, occurring in approximately 1 in every 1,000 live births [4]. It is characterized by progressive bil...
متن کاملMolecular analysis of TSC2/PKD1 contiguous gene deletion syndrome.
BACKGROUND Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either of two genes, TSC1 and TSC2. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2. TSC2 lies immediately adjacent to PKD1 and large heterozygous deletions can result in the TSC2/PKD1 contiguous gene syndrome (PKDTS). PKDTS has been identified ...
متن کاملMosaic Turner syndrome associated with schizophrenia
Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndro...
متن کاملA complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome.
We originally identified the IL1RAPL1 gene through its partial deletion in a patient with Becker muscular dystrophy (BMD), glycerol kinase deficiency (GKD), adrenal hypoplasia congenita (AHC), and mild mental retardation, and suggested that its disruption might account for the patient’s cognitive problems. Other workers have shown that intragenic mutations of the IL1RAPL1 gene are associated wi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2018
ISSN: 0022-202X
DOI: 10.1016/j.jid.2018.03.807