Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

A FSH-Secreting Pituitary Macroadenoma Causing A Testosterone Deficiency Syndrome

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive disorder, characterized by intracellular accumulation of lipid droplets in most tissues. It is very difficult to find a correlation between the phenotypic and genotypic features due to the occurrence of novel ABHD5 [ α/β hydrolase domain-containing protein-5; originally called CGI-58 (comparative gene identification-58)] mutations and th...

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

BACKGROUND Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families. OBJECTIVE To describe a Spanish family with LS, complex I deficiency in muscle, and a novel mutation in the NDUFS1 gene. DESIGN Using molecular genetic approaches, we id...

Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family.   Case Report: The...