Phenotype Analysis in Two Families With Otopalatodigital
Syndrome Spectrum Disorder Based on FLNA Gene Variants

J 2026

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants

SCHWARZ, Martin; Miroslav FISER; Lenka SODKOVA; Eva MISOVA; Martin DRAHANSKÝ et al.

Základní údaje

Originální název

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants

Autoři

SCHWARZ, Martin; Miroslav FISER; Lenka SODKOVA; Eva MISOVA; Martin DRAHANSKÝ; Tomas VOKALEK; Renata MICHALOVSKA; Adela MATEJKOVA; Jaroslava JINDROVA; Sarka BENDOVA a Milan MACEK JR

Vydání

CLINICAL GENETICS, HOBOKEN, WILEY, 2026, 0009-9163

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30218 General and internal medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.300 v roce 2024

Označené pro přenos do RIV

Ano

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

dental anomaly; FLNA; frontometaphyseal dysplasia; massively parallel sequencing; otopalatodigital syndrome; phenotype

Štítky

14314070, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 27. 4. 2026 09:37, Mgr. Marie Novosadová Šípková, DiS.

Anotace

V originále

Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing identified hemizygous maternally inherited FLNA gene variants in P1 (c.733G>A; p.Glu245Lys) and P2 (c.3707G>A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.

Citovat

SCHWARZ, Martin; Miroslav FISER; Lenka SODKOVA; Eva MISOVA; Martin DRAHANSKÝ; Tomas VOKALEK; Renata MICHALOVSKA; Adela MATEJKOVA; Jaroslava JINDROVA; Sarka BENDOVA a Milan MACEK JR. Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants. CLINICAL GENETICS. HOBOKEN: WILEY, 2026, roč. 109, č. 3, s. 546-551. ISSN 0009-9163. Dostupné z: https://doi.org/10.1111/cge.70056.

@article{2568898,
   author = {Schwarz, Martin and Fiser, Miroslav and Sodkova, Lenka and Misova, Eva and Drahanský, Martin and Vokalek, Tomas and Michalovska, Renata and Matejkova, Adela and Jindrova, Jaroslava and Bendova, Sarka and Macek Jr, Milan},
   article_location = {HOBOKEN},
   article_number = {3},
   doi = {https://doi.org/10.1111/cge.70056},
   keywords = {dental anomaly; FLNA; frontometaphyseal dysplasia; massively parallel sequencing; otopalatodigital syndrome; phenotype},
   language = {eng},
   issn = {0009-9163},
   journal = {CLINICAL GENETICS},
   title = {Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants},
   url = {https://onlinelibrary.wiley.com/doi/full/10.1111/cge.70056},
   volume = {109},
   year = {2026}
}

TY  - JOUR
ID  - 2568898
AU  - Schwarz, Martin - Fiser, Miroslav - Sodkova, Lenka - Misova, Eva - Drahanský, Martin - Vokalek, Tomas - Michalovska, Renata - Matejkova, Adela - Jindrova, Jaroslava - Bendova, Sarka - Macek Jr, Milan
PY  - 2026
TI  - Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants
JF  - CLINICAL GENETICS
VL  - 109
IS  - 3
SP  - 546-551
EP  - 546-551
PB  - WILEY
SN  - 00099163
KW  - dental anomaly
KW  - FLNA
KW  - frontometaphyseal dysplasia
KW  - massively parallel sequencing
KW  - otopalatodigital syndrome
KW  - phenotype
UR  - https://onlinelibrary.wiley.com/doi/full/10.1111/cge.70056
N2  - Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing identified hemizygous maternally inherited FLNA gene variants in P1 (c.733G>A; p.Glu245Lys) and P2 (c.3707G>A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.
ER  -

SCHWARZ, Martin; Miroslav FISER; Lenka SODKOVA; Eva MISOVA; Martin DRAHANSKÝ; Tomas VOKALEK; Renata MICHALOVSKA; Adela MATEJKOVA; Jaroslava JINDROVA; Sarka BENDOVA a Milan MACEK JR. Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants. \textit{CLINICAL GENETICS}. HOBOKEN: WILEY, 2026, roč.~109, č.~3, s.~546-551. ISSN~0009-9163. Dostupné z: https://doi.org/10.1111/cge.70056.

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