IllnessMicrocephaly (patients with Seckel symptoms)

NGS +

Syndromic primary microcephaly (sMCPH) is a disorder of brain development that causes occipitofrontal head circumference to be significantly below the mean for (gestational) age and sex. The genes mutated in sMCPH encode several mechanistic categories, notably centrioles formation, telomere integrity, DNA replication and repair. The severity of developmental delay/intellectual disability appears to correlate with the severity of primary microcephaly. This microcephaly sub-panel is compiled according to the AWMF guidelines (see below). sMCPH in Seckel syndrome is inherited predominantly in an autosomal recessive manner. The diagnostic rates depend primarily on the quality of the preliminary clinical examinations. An inconspicuous genetic finding does not imply exclusion of the suspected clinical diagnosis.

Reference: https://www.awmf.org/uploads/tx_szleitlinien/022-028l_S2k_Klassifikation_Diagnostik_Mikrozephalie_2019-11.pdf

• Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
• Allelic: Jawad syndrome (RBBP8)
• Allelic: Pancreatic carcinoma, somatic (RBBP8)
• Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
• Allelic: Roifman syndrome (RNU4ATAC)
• Lowry-Wood syndrome (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
• Microcephaly 6, primary, AR (CENPJ)
• Microcephaly 9, primary, AR (CEP152)
• Seckel syndrome 1 (ATR)
• Seckel syndrome 10 (NSMCE2)
• Seckel syndrome 2 (RBBP8)
• Seckel syndrome 4 (CENPJ)
• Seckel syndrome 5 (CEP152)
• Seckel syndrome 6 (CEP63)
• Seckel syndrome 7 (NIN)
• Seckel syndrome 8 (DNA2)
• Seckel syndrome 9 (TRAIP)