Expansion of the phenotypic and mutational spectrum of Carpenter syndrome

Khairat, Rabab; Elhossini, Rasha; Sobreira, Nara; Wohler, Elizabeth; Otaify, Ghada A.; Mohamed, Amal M.; Raouf, Ehab R. Abdel; Sayed, Inas S. M.; Aglan, Mona; Ismail, Samira; Temtamy, Samia A.

doi:10.1016/j.ejmg.2021.104377

Cited by 5 publications

(3 citation statements)

References 34 publications

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“…RAB23 gene mutations are associated with the syndrome, which appears with autosomal recessive inheritance[ 42 ]. Recent molecular studies have identified two new mutations in RAB23 gene (NM_001278668:c.T416C:p.Leu139Pro and NM_016277.5:c.398+1G>A)[ 43 ] and a new mutation in P4HB gene [ 44 ].…”

Section: Clinical and Molecular Manifestations Of Syndromic Hand And ...mentioning

confidence: 99%

Polydactyly: Clinical and molecular manifestations

Kyriazis¹,

Κollia²,

Grivea³

et al. 2023

World J Orthop

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Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders. It can be divided into two major groups: Non-syndromic polydactyly or syndromic polydactyly. According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation. There are several forms of polydactyly, including hand and foot extra digit manifestations. The deformity affects upper limbs with a higher frequency than the lower, and the left foot is more often involved than the right. The treatment is always surgical. Since the clinical presentation is highly diverse, the treatment combines single or multiple surgical operations, depending on the type of polydactyly. The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders. Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most non-syndromic and syndromic disorders.

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Section: Clinical and Molecular Manifestations Of Syndromic Hand And ...mentioning

confidence: 99%

Polydactyly: Clinical and molecular manifestations

Kyriazis¹,

Κollia²,

Grivea³

et al. 2023

World J Orthop

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“…familial Mediterranean fever (MEFV gene) [120], thiamine-responsive megaloblastic anemia (SLC19A2 gene) [121], cerebellar atrophy and developmental delay (PLA2G6, KIF1A and MOCS2A genes) [122], micro-/anophthalmia (VSX2, SOX2, and FOXE3 genes) [123], RAGdeficiency (RAG1 and RAG2 genes) [124], auriculocondylar syndrome (PLCB4, GNAI3, and EDN1 genes) [125], ectodermal dysplasia (EDA, EDAR, and EDARADD genes) [126], 3phosphoglycerate dehydrogenase deficiency (PHGDH gene) [127], carpenter syndrome (RAB23 gene) [128], disorders/differences of sex development (NR5A1, CYP19A1, AMH, AMHR2, WT1, HHAT, and FANCA and in the X-linked genes KDM6A and ARX genes) [129] and autosomal recessive polycystic kidney disease (PKHD1 gene) [130]. WES studies in Iraqi people revealed associated genes of epileptic encephalopathy (SLC13A5 gene) [131],…”

Section: P R E P R I N Tmentioning

confidence: 99%

“…Studies (WES) in Egyptian individuals revealed associated genes of primary hyperoxaluria type I ( AGXT gene), infantile hypercalcemia/hypophosphatemia/nephrolithiasis ( SLC34A1 gene) [ 115 ], severe combined immunodeficiency ( JAK3 gene) [ 116 ], propionic acidemia ( PCCA gene) [ 117 ], sulfite oxidase deficiency ( SUOX gene), molybdenum cofactor deficiency ( MOCS2 gene) [ 118 ], primary hereditary microcephaly ( ASPM gene) [ 119 ], familial Mediterranean fever ( MEFV gene) [ 120 ], thiamine-responsive megaloblastic anemia ( SLC19A2 gene) [ 121 ], cerebellar atrophy and developmental delay ( PLA2G6 , KIF1A and MOCS2A genes) [ 122 ], micro-/anophthalmia ( VSX2 , SOX2 , and FOXE3 genes) [ 123 ], RAG-deficiency ( RAG1 and RAG2 genes) [ 124 ], auriculocondylar syndrome ( PLCB4 , GNAI3 , and EDN1 genes) [ 125 ], ectodermal dysplasia ( EDA , EDAR , and EDARADD genes) [ 126 ], 3-phosphoglycerate dehydrogenase deficiency ( PHGDH gene) [ 127 ], Carpenter syndrome ( RAB23 gene) [ 128 ], disorders/differences of sex development (NR5A1, CYP19A1, AMH, AMHR2, WT1, HHAT, and FANCA and in the X-linked genes KDM6A and ARX genes) [ 129 ] and autosomal recessive polycystic kidney disease ( PKHD1 gene) [ 130 ]. WES studies in Iraqi people revealed associated genes of epileptic encephalopathy ( SLC13A5 gene) [ 131 ], juvenile neuronal ceroid lipofuscinoses ( CLN3 gene) [ 132 ], inherited thrombocytopenia ( FYB gene) [ 133 ], microcephaly ( TMX2 gene) [ 134 ], non-syndromic retinal dystrophy ( POC1B gene) [ 135 ], progressive pseudorheumatoid dysplasia ( WISP3 gene) [ 136 ], dedicator of cytokinesis 8 deficiency ( DOCK8 gene) [ 137 ], and developmental delay ( MED27 gene) [ 138 ].…”

Section: Other Genetic Diseasesmentioning

confidence: 99%

Heterogeneity in biomarkers, mitogenome and genetic disorders of Arab population with special emphasis on large-scale whole-exome sequencing

Borgio

2021

Arch Med Sci

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More than 25 million DNA variations were discovered as novel including major alleles from Arab population. Exome studies on Arabs discovered >3000 novel nucleotide variants associated with >1200 rare genetic disorders. Reclassification of many pathogenic variant into benign through the Arab database enhance building a detailed and comprehensive map of Arab morbid genome. Intellectual disability stands first with the combined and observed carrier frequency. Genome studies and advanced computational biology discovered interesting novel candidate disease marker variations in many genes from consanguineous families with intellectual disability, neurogenetic disorders, blood and bleeding disorder and rare genetic diseases. Pathogenic variants in C12orf57 gene are prominently associated with the etiology of developmental delay/intellectual impairment. Arab mitogenome exposed hundreds of variations in mtDNA genome and its association with obesity. Further study is needed in genomics to fully comprehend the molecular abnormalities and associated pathogenesis that cause inherited disorders in Arab ancestries.

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