A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis

A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report

Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...

A new case of “de novo” BRCA1 mutation in a patient with early‐onset breast cancer

Most of the de novo BRCA1/2 mutations have been identified in patients with early-onset breast cancer and without family history of the disease. The identification of these alterations could play a prominent role in the prevention and treatment strategies and may influence clinical management of patients.

A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis.

We present a 26 year old female Indonesian patient with full spectrum Emery Dreifuss Muscular Dystrophy (EDMD) characterized with contracture of elbows, heel cord and pelvic muscle wasting and weakness and atrial paralysis, as rare cardiac findings in EDMD . A novel de novo pathogenic heterozygous missense mutation (NM_170707.3: c.122G>T, p.Arg41Leu) in exon 1 was detected. Preventing atrial pa...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de novo c.473T>C (p.M158T) mutation in exon 3 of EFNB1 was demonstrated in this patient. The M158 resi...