hallervorden-spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. the disease is caused by mutations in gene encoding pantothenate kinase 2 (pank2) and patients have pantothenate kinase-associated neurodegeneration. we present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of diffe...

objective(s):  coronary artery disease (cad) which may lead to myocardial infarction (mi) is a complex one. great effort has been devoted to identification of genes that increase susceptibility to cad or provide protection. a 21-bp deletion in the mef2a gene, which encodes a member of the myocyte enhancer factor 2 family of transcription factors, has been reported in patients of a single pedigr...

introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...

the data set used in this study contained 8793 records of lamb's longevity (days) from 320 sires and 2349 dams collected during 1989 to 2014, from the lori-bakhtiari flock at shooli station in shahrekord, iran. genetic parameters (partitioned into autosomal, sex-linked and maternal) and breeding values of cumulative lamb's longevity from birth up to yearling age (at 1, 2, 3, 6, 9 and ...

ellis-van creveld syndrome is transmitted as an autosomal recessive trait. this syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large asd. patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their ...

objective(s): genetic analysis of two consanguineous pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. materials and methods: genomic dna extraction had been done from peripheral blood samples. extracted dna was then subjected to pcr (polymerase chain reaction) for amplification. linkage analysis was perf...

autosomal dominant polycystic kidney disease (adpkd) is an inherited disorder associated with multiple cyst formation in the different organs. development of pancreatic cyst in adpkd is often asymptomatic and is associated with no complication. a 38‑year‑old man with adpkd was presented with six episodes of acute pancreatitis and two episodes of cholangitis in a period of 12 months. various ima...

how to cite this article: akbarizar e, ebrahimpour m, akbari s, arzhanghi s, abedini ss, najmabadi h, kahrizi k. a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly. iran j child neurol.  2013 spring;7(2):23-30.   objective autosomal recessive primary microcephaly (mcph) is a neurodevelopmental and genetically heterogeneous disorder with dec...