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196-211del_human-SERAC1

General

Gene Locus : human-SERAC1, human-SERAC1, human-SERAC1

Mode of mutation : Natural mutant

Disease : MEGDEL syndrome

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
(c.1822_1828delTCAGCAGGTATTCACTCinsACCAACAGG) . This mutation deletes the splice donor site of exon 16 and predicts truncation of the last 45 amino acids encoded by exon 17. Neonatal hyperammonemia and liver synthesis dysfunction: severe MEGDHEL syndrome in two-day-old small for gestational age neonate

References (9)

Title : Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome - Kirchberg_2024_Front.Pediatr_12_1278047
Author(s) : Kirchberg I , Lainka E , Gangfuss A , Kuechler A , Baertling F , Schlieben LD , Lenz D , Tschiedel E
Ref : Front Pediatr , 12 :1278047 , 2024
Abstract :
PubMedSearch : Kirchberg_2024_Front.Pediatr_12_1278047
PubMedID: 38445077
Gene_locus related to this paper: human-SERAC1

Title : Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome - Kirchberg_2024_Front.Pediatr_12_1278047
Author(s) : Kirchberg I , Lainka E , Gangfuss A , Kuechler A , Baertling F , Schlieben LD , Lenz D , Tschiedel E
Ref : Front Pediatr , 12 :1278047 , 2024
Abstract :
PubMedSearch : Kirchberg_2024_Front.Pediatr_12_1278047
PubMedID: 38445077
Gene_locus related to this paper: human-SERAC1

Title : Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome - Kirchberg_2024_Front.Pediatr_12_1278047
Author(s) : Kirchberg I , Lainka E , Gangfuss A , Kuechler A , Baertling F , Schlieben LD , Lenz D , Tschiedel E
Ref : Front Pediatr , 12 :1278047 , 2024
Abstract :
PubMedSearch : Kirchberg_2024_Front.Pediatr_12_1278047
PubMedID: 38445077
Gene_locus related to this paper: human-SERAC1

Title : Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 - Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298
Author(s) : Fellman V , Banerjee R , Lin KL , Pulli I , Cooper H , Tyynismaa H , Kallijarvi J
Ref : Biochimica & Biophysica Acta Mol Basis Dis , 1868 :166298 , 2022
Abstract :
PubMedSearch : Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298
PubMedID: 34751152
Gene_locus related to this paper: human-SERAC1

Title : Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 - Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298
Author(s) : Fellman V , Banerjee R , Lin KL , Pulli I , Cooper H , Tyynismaa H , Kallijarvi J
Ref : Biochimica & Biophysica Acta Mol Basis Dis , 1868 :166298 , 2022
Abstract :
PubMedSearch : Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298
PubMedID: 34751152
Gene_locus related to this paper: human-SERAC1

Title : Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 - Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298
Author(s) : Fellman V , Banerjee R , Lin KL , Pulli I , Cooper H , Tyynismaa H , Kallijarvi J
Ref : Biochimica & Biophysica Acta Mol Basis Dis , 1868 :166298 , 2022
Abstract :
PubMedSearch : Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298
PubMedID: 34751152
Gene_locus related to this paper: human-SERAC1

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1