p.R138Q and p.R229Q Screening In NPHS2 Gene in a Moroccan Cohort with Steroid Resistant Nephrotic Syndrome

Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. The p.R138Q (c.413G>A) mutation in exon 3 was the most prevalent mutation in European series. The p.R229Q (c.686G>A) variant in exon 5 is the first human variant discovered with a mutation-dependent pathogenicity. We aimed in this study to screen for the p.R138Q mutation and the p.R138Q variant in a Moroccan cohort with Steroid Resistant Nephrotic Syndrome.

Mutation analysis of the SLC26A4 gene in patients in Yakutia with inner ear abnormalities: IP-I, IP-II (Mondini) and / or EVA

В работе представлены результаты обследований 165 пациентов с врожденными нарушениями слуха из Якутии, проведенных с использованием аудиологических, рентгенологических и молекулярно-генетических методов с целью изучения аутосомно-рецессивной формы глухоты, связанной с аномалиями внутреннего уха (IP-I, IP-II и/или EVA) и мутациями гена SLC26A4 (DFNB4, MIM 600791). We presents the results of audiological, radiological and molecular genetic studies of 165 patients with congenital hearing impairment in Yakutia to investigate of autosomal recessive form of deafness associated with anomalies of the inner ear (IP-I, IP-II and / or EVA) and mutations in the SLC26A4 gene (DFNB4, MIM 600791).

A rare manifestation of Fanconi anemia

Fanconi anemia is an inherited pancytopenia, primarily inherited as autosomal recessive form. It occurs in all racial and ethnic groups. Majority of patients have both physical and haematological abnormalities, about one-third of patients will have normal physical features but abnormal haematological findings and unknown percentage have physical anomalies and normal haematological findings. The diagnosis is based on characteristic physical anomalies and abnormal haematological findings, which is confirmed with a lymphocytic chromosomal breakage study using Diepoxy butane (DEB). The report here is about a two and half years old female child who presented with physical features in the form of short stature, microcephaly, left hypoplastic thumb and congenital heart disease without haematological abnormalities. Chromosomal study was suggestive of Fanconi’s anemia.

Case report of adolescent male with non-bullous congenital ichthyosiform erythroderma visiting dermatology clinic of King Fahad Military Hospital, Jeddah, Saudi Arabia, 2017

Non-bullous congenital ichthyosiform erythroderma (NBCIE) is an inherited disease with autosomal recessive form. It is considered as an extremely rare skin disorder that estimated to occur in 1/300,000 births, characterized by abnormal scaling of the skin with underlying redness. This is a case report study design with detailed history, examination and genetic analysis of 17 years old male with Non-bullous congenital ichthyosiform erythroderma (NBCIE).