Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b.

During the development of the vertebrate nervous system, 50% of the nerve cells undergo apoptosis shortly after formation. This process is important for sculpting tissue during morphogenesis and removing transiently functional cells that are no longer needed, ensuring the appropriate number of neurons in each region. Dysregulation of neuronal apoptosis can lead to neurodegenerative diseases.

A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.

Background: Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding cassette subfamily B member 4 gene (ABCB4), which encodes multidrug resistance protein 3 (MDR3/ABCB4). Patients are usually in infancy or childhood, but cirrhosis and portal hypertension may be the first manifestation in older children or young adults.

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.

A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP), a severe neurovisceral, autosomal dominant disorder with low penetrance. Even though in-depth investigations of the HMBS variants have been carried out by researchers in Britain, France, Russia, and Sweden, this area remains uninvestigated in China owing to the rarity and lack of clinical understanding of the disease. In this study, 78 unrelated AIP patients revealed 48 different HMBS variants, of which 17 were novel.

Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report.

Pearson syndrome (PS), also known as Pearson marrow-pancreas syndrome, is a rare, multi-systemic disorder caused by large-scale deletion of mitochondrial DNA (mtDNA) ranging from 2.3 kb to 9 kb, with 4,977 bp in length as the most common variant. This paper reported a novel mtDNA deletion of 4,734 bp in size, spanning from nucleotide 11,220 to 15,953.

Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades.

Background: The presence of more than one polyQ-related gene within a single individual is a rare incidence, which may provide the potential opportunity to study the combined effects of these spinocerebellar ataxia (SCA) genes.

Methods: We retrospectively analyzed genetic data from 112 SCA3 probands and found Patient 1 harbored expanded ATXN2 allele (33 repeats) and intermediate TBP allele (41 repeats), and Patient 2 with intermediate ATXN2 allele (32 repeats). Detailed clinical and oculomotor performances were investigated.

[Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1].

Objective: To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes.

Methods: Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing.

[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].

Objective: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.

Methods: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene.

A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. Mutation of the lysine methyltransferase 2D (KMT2D) gene (formerly known as MLL2) is the primary cause of KS.

[Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].

Objective: To review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.

Methods: Clinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples.

[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].

Objective: To evaluate the genetic diagnostic feasibility of Bruton's tyrosine kinase (BTK) gene in three families with X-linked agammagobulinemia (XLA) birth history, mutation analysis and prenatal genetic diagnosis of BTK gene for two families with XLA.

Methods: Polymerase chain reaction (PCR) was applied to amplify the regions of exon and exon-intron boundaries of BTK gene in 3 unrelated patients of XLA and their mothers from January 2011 to June 2012. The PCR products were further analyzed by direct sequencing.

Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments.

Background: The aim of this study was to establish a sensitive method that can detect the presence of not only the common but also the unusual or unknown α-globin gene deletions for screening of α-thalassemia. We used quantitative multiplex PCR of short fluorescent fragments (QMPSF) for the α-globin genes (HBA) to screen α-thalassemia deletions.

Methods: We set up and validated HBA-QMPSF using 50 negative and 100 positive controls of deletional α-thalassemia.