Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family
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Date
2020
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Abstract
Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families. © 2020 Elsevier Ltd
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Keywords
Acetylglucosaminidase , Agenesis of Corpus Callosum , Female , Homozygote , Humans , Mucopolysaccharidosis III , Mutation , Paraplegia , Phospholipases , Whole Exome Sequencing , amino acid , carnitine palmitoyltransferase I , DNA , acetylglucosaminidase , alpha-N-acetyl-D-glucosaminidase , DDHD2 protein, human , phospholipase , Article , case report , child , clinical article , clinical feature , consanguineous marriage , corpus callosum agenesis , DDHD2 gene , developmental delay , DNA sequencing , female , gene , gene mutation , genetic variation , GM1 gangliosidosis , GM2 gangliosidosis , hereditary motor sensory neuropathy , homozygosity , human , limb weakness , molecular diagnosis , NAGLU gene , nuclear magnetic resonance imaging , nuclear magnetic resonance spectroscopy , persistent vegetative state , physical examination , priority journal , Sanfilippo syndrome , sibling , spastic paraplegia , spasticity , Turk (people) , whole exome sequencing , genetics , homozygote , mutation , paraplegia , Sanfilippo syndrome