Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.
PMID 9667776 | DOI 10.1016/s0022-510x(98)00053-7 · Journal of the neurological sciences · 1998
In this study we examined the deletion of the SMN and NAIP genes in 14 Saudi families (16 patients and 38 relatives of the patients, including parents and siblings) and six healthy Saudi volunteers. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene and exon 5 of the NAIP gene were found in seven out of eight spinal muscular atrophy (SMA) type-I patients. In seven SMA type-II patients, exons 7 and 8 of telomeric SMN were deleted in six cases and exon 5 of NAIP was deleted in three cases. Three patients with SMA diagnosis did not show either of the above deletions. All control Saudi volunteers and all but two family members of the patients had both normal SMN and NAIP genes. Our results show that the incidence of NAIP deletion is higher in the more severe SMA cases and the dual deletions of the SMN and NAIP genes are more common in Saudi SMA type-I patients compared to patients of other ethnic groups.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NAIP | “Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients. In this study we examined the deletion of the SMN and NAIP genes in 14 Saudi families (16 patients and 38 relatives of the patients, including parents and siblings) and six healthy Saudi volunteers. All control Saudi volunteers and all but two family members of the patients had both normal SMN and NAIP genes. Our results show that the incidence of NAIP deletion is higher in the more severe SMA cases and the dual deletions of the SMN and NAIP genes are more common in Saudi SMA type-I patients compared to patients of other ethnic groups.” | 0.95 | saudi_context_rules_v1 |