De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

Shenzhao Lu; Mengqi Ma; Xiao Mao; Carlos A. Bacino; Joseph Jankovic; V. Reid Sutton; James A. Bartley; Xueying Wang; Jill A. Rosenfeld; Ana Beleza-Meireles; Jaynee Chauhan; Xueyang Pan; Megan Li; Pengfei Liu; Katrina Prescott; Sam Amin; George Davies; Michael F. Wangler; Yuwei Dai; Hugo J. Bellen

doi:10.1016/j.ajhg.2022.09.005

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

Shenzhao Lu
, Mengqi Ma
, Xiao Mao
, Carlos A. Bacino
, Joseph Jankovic
, V. Reid Sutton
, James A. Bartley
, Xueying Wang
, Jill A. Rosenfeld
, Ana Beleza-Meireles
, Jaynee Chauhan
, Xueyang Pan
, Megan Li
, Pengfei Liu
, Katrina Prescott
, Sam Amin
, George Davies
, Michael F. Wangler
, Yuwei Dai
, Hugo J. Bellen

Pediatric Genetics Division

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	1932-1943
Number of pages	12
Journal	American Journal of Human Genetics
Volume	109
Issue number	10
DOIs	https://doi.org/10.1016/j.ajhg.2022.09.005
State	Published - Oct 6 2022

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

CG5022
Drosophila
FRMD5
ataxia
dFrmd
developmental delay
intellectual disability
nystagmus
opsoclonus
seizures
Eye Movements
Humans
Developmental Disabilities/genetics
Phosphatidylinositols
Intellectual Disability/genetics
Membrane Proteins
Tumor Suppressor Proteins/genetics
Animals
Ataxia/genetics
DNA, Complementary
Seizures

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Lu, S., Ma, M., Mao, X., Bacino, C. A., Jankovic, J., Sutton, V. R., Bartley, J. A., Wang, X., Rosenfeld, J. A., Beleza-Meireles, A., Chauhan, J., Pan, X., Li, M., Liu, P., Prescott, K., Amin, S., Davies, G., Wangler, M. F., Dai, Y., & Bellen, H. J. (2022). De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. American Journal of Human Genetics, 109(10), 1932-1943. https://doi.org/10.1016/j.ajhg.2022.09.005

Lu, S, Ma, M, Mao, X, Bacino, CA, Jankovic, J, Sutton, VR, Bartley, JA, Wang, X, Rosenfeld, JA, Beleza-Meireles, A, Chauhan, J, Pan, X, Li, M, Liu, P, Prescott, K, Amin, S, Davies, G, Wangler, MF, Dai, Y & Bellen, HJ 2022, 'De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement', American Journal of Human Genetics, vol. 109, no. 10, pp. 1932-1943. https://doi.org/10.1016/j.ajhg.2022.09.005

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title = "De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement",

keywords = "CG5022, Drosophila, FRMD5, ataxia, dFrmd, developmental delay, intellectual disability, nystagmus, opsoclonus, seizures, Eye Movements, Humans, Developmental Disabilities/genetics, Phosphatidylinositols, Intellectual Disability/genetics, Membrane Proteins, Tumor Suppressor Proteins/genetics, Animals, Ataxia/genetics, DNA, Complementary, Seizures",

author = "Shenzhao Lu and Mengqi Ma and Xiao Mao and Bacino, \{Carlos A.\} and Joseph Jankovic and Sutton, \{V. Reid\} and Bartley, \{James A.\} and Xueying Wang and Rosenfeld, \{Jill A.\} and Ana Beleza-Meireles and Jaynee Chauhan and Xueyang Pan and Megan Li and Pengfei Liu and Katrina Prescott and Sam Amin and George Davies and Wangler, \{Michael F.\} and Yuwei Dai and Bellen, \{Hugo J.\}",

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doi = "10.1016/j.ajhg.2022.09.005",

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T1 - De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

AU - Lu, Shenzhao

AU - Ma, Mengqi

AU - Mao, Xiao

AU - Bacino, Carlos A.

AU - Jankovic, Joseph

AU - Sutton, V. Reid

AU - Bartley, James A.

AU - Wang, Xueying

AU - Rosenfeld, Jill A.

AU - Beleza-Meireles, Ana

AU - Chauhan, Jaynee

AU - Pan, Xueyang

AU - Li, Megan

AU - Liu, Pengfei

AU - Prescott, Katrina

AU - Amin, Sam

AU - Davies, George

AU - Wangler, Michael F.

AU - Dai, Yuwei

AU - Bellen, Hugo J.

PY - 2022/10/6

Y1 - 2022/10/6

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KW - Drosophila

KW - FRMD5

KW - ataxia

KW - dFrmd

KW - developmental delay

KW - intellectual disability

KW - nystagmus

KW - opsoclonus

KW - seizures

KW - Eye Movements

KW - Humans

KW - Developmental Disabilities/genetics

KW - Phosphatidylinositols

KW - Intellectual Disability/genetics

KW - Membrane Proteins

KW - Tumor Suppressor Proteins/genetics

KW - Animals

KW - Ataxia/genetics

KW - DNA, Complementary

KW - Seizures

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UR - https://www.scopus.com/pages/publications/85139344208#tab=citedBy

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DO - 10.1016/j.ajhg.2022.09.005

M3 - Article

C2 - 36206744

AN - SCOPUS:85139344208

SN - 0002-9297

VL - 109

SP - 1932

EP - 1943

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 10

ER -

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

ASJC Scopus Subject Areas

Keywords

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