Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations

2017 ◽  
Vol 34 (5) ◽  
pp. e249-e253 ◽  
Author(s):  
Krystal M. Jones ◽  
Annika Silfvast-Kaiser ◽  
David R. Leake ◽  
Lucia Z. Diaz ◽  
Moise L. Levy
Keyword(s):  
Compound Heterozygous ◽  
Syndrome Type

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

2019 ◽  
Vol 47 (2) ◽  
pp. 185-189 ◽  
Author(s):  
Takuro Nishikawa ◽  
Ken Okamura ◽  
Mizuki Moriyama ◽  
Kenji Watanabe ◽  
Atsuko Ibusuki ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Compound Heterozygous Mutations

scholarly journals Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

2021 ◽  
Vol 12 ◽  
Author(s):  
Jing Zhang ◽  
Huaying Hu ◽  
Weihong Mu ◽  
Mei Yu ◽  
Wenqi Chen ◽  
...  
Keyword(s):  
Amino Acids ◽  
Exome Sequencing ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Prenatal Genetic Testing ◽  
Rare Type ◽  
Whole Exome ◽  
Bruck Syndrome ◽  
Insight Into

Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in FKBP10 and PLOD2 genes, respectively. In this study, a family that had experienced multiple miscarriages and recurrent fetal skeletal dysplasia was recruited for the purpose of a multiplatform laboratory investigation. Prenatal genetic testing with whole-exome sequencing (WES) identified a compound heterozygous variation in the PLOD2 gene with two variants, namely c.2038C>T (p.R680*) and c.191_201+3 delATACTGTGAAGGTA (p.Y64Cfs*12). The amino acids affected by the two variants maintained conserved across species. And the result of immunohistochemistry (IHC) indicated that the expression of PLOD2 protein in the proband's osteochondral tissue was significantly decreased. These findings in our study expanded the variation spectrum of PLOD2 gene, provided solid evidence for the family's counseling in regard to future pregnancies, strongly supported the application of WES in prenatal diagnosis, and might give insight into the understanding of PLOD2 function.

Two Different UGT1A1 Mutations causing Crigler–Najjar Syndrome types I and II in an Iranian Family

2015 ◽  
Vol 24 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Mahdiyeh Behnam ◽  
Shinichi Ikushiro ◽  
Sayuri Nakahara ◽  
Narges Nouri ◽  
...  
Keyword(s):  
Serum Bilirubin ◽  
Total Serum Bilirubin ◽  
Total Serum ◽  
Compound Heterozygous ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Wild Type ◽  
Iranian Family ◽  
Udp Glucuronosyltransferase

Background: Crigler–Najjar syndrome type I (CN-1) and type II (CN-2) are rare hereditary unconjugated hyperbilirubinemia disorders. However, there have been no reports regarding the co-existence of CN-1 and CN-2 in one family. We experienced a case of an Iranian family that included members with either CN-1 or CN-2. Genetic analysis revealed a mutation in the bilirubin UDP-glucuronosyltransferase (UGT1A1) gene that resulted in residual enzymatic activity.Case report: The female proband developed severe hyperbilirubinemia [total serum bilirubin concentration (TB) = 34.8 mg/dL] with bilirubin encephalopathy (kernicterus) and died after liver transplantation. Her family history included a cousin with kernicterus (TB = 30.0 mg/dL) diagnosed as CN-1. Her great grandfather (TB unknown) and uncle (TB = 23.0 mg/dL) developed jaundice, but without any treatment, they remained healthy as CN-2. Results: The affected cousin was homozygous for a novel frameshift mutation (c.381insGG, p.C127WfsX23). The affected uncle was compound heterozygous for p.C127WfsX23 and p.V225G linked with A(TA)7TAA. p.V225G-UGT1A1 reduced glucuronidation activity to 60% of wild-type. Thus, linkage of A(TA)7TAA and p.V225G might reduce UGT1A1 activity to 18%–36 % of the wild-type. Conclusion: Genetic and in vitro expression analyses are useful for accurate genetic counseling for a family with a history of both CN-1 and CN-2. Abbreviations: CN-1: Crigler–Najjar syndrome type I; CN-2: Crigler–Najjar syndrome type II; GS: Gilbert syndrome; UGT1A1: bilirubin UDP-glucuronosyltransferase; WT: Wild type; TB: total serum bilirubin.

Oro facial digital syndrome type 2- An Indian case report

2016 ◽  
Vol 3 (4) ◽  
pp. 115
Author(s):  
Naresh Bansal ◽  
Ashok Gupta ◽  
Manisha Goyal ◽  
Manish Sharma ◽  
Priyanshu Mathur ◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type
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