Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental retardation also occurs. Genes that control cellular responses to DNA damage are linked to the syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00992 Seckel syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06509 DNA replication
H00992 Seckel syndrome
nt06506 Double-strand break repair
H00992 Seckel syndrome
nt06508 Interstrand crosslink repair
H00992 Seckel syndrome
Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tuysuz B, Nurnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nurnberg P, Karaguzel A, Wollnik B
Title
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP
Title
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R
Title
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang J
Title
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Progressive external ophthalmoplegia (PEO) is a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia and a variable neck and limb muscle weakness. Most sporadic PEO cases have an acquired genetic disease with a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in muscle. In familial PEO, several modes of inheritance occur. Patients may have a nuclear gene defect that predisposes to the accumulation of mtDNA deletions. Recently, mutations in such nuclear genes have been discovered. Some mutations are dominant (PEOA) and others recessive.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Strabismus or ocular motility disorders
9C82 Disorders of extraocular muscles
H01118 Progressive external ophthalmoplegia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06509 DNA replication
H01118 Progressive external ophthalmoplegia
nt06504 Base excision repair
H01118 Progressive external ophthalmoplegia
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferro MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP
Title
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
