Submissions for variant NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV003471303	SCV004197420	likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	2023-06-11	criteria provided, single submitter	clinical testing
Department of Medical Genetics, National Institute of Health	RCV003107986	SCV002558808	likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I	2022-08-08	no assertion criteria provided	clinical testing	We investigated an eleven-year-old Moroccan consanguineous female, with no particular familial history. The first clinical signs started with a frequent fall and calf hypertrophy at 4 of age. The patient still walks on tiptoes and is not mentally retarded. Her serum creatine kinase (CK) level was 20 times increased from normal range. Electromyography (EMG) showed a myogenic pattern in muscles of upper and lower limbs. A Next-Generation Sequencing analysis (NGS) was performed for our patient. Two variants were detected in exon 4 of the FKRP gene including a new variant never reported in databases: NM_024301.5(FKRP):c.1364C>A; p.Ala455Asp known as pathogenic and NM_024301.5(FKRP):c.1327G>A. Direct Sanger sequencing showed that each one of the patient’s parents harbors one of the two mutations at heterozygous state.